Literature DB >> 12465067

Phenomenology of "Lubag" or X-linked dystonia-parkinsonism.

Virgilio Gerald H Evidente1, Joel Advincula, Raymund Esteban, Paul Pasco, Jhoe Anthony Alfon, Filipinas F Natividad, Joven Cuanang, Amado San Luis, Katrina Gwinn-Hardy, John Hardy, Dena Hernandez, Andrew Singleton.   

Abstract

X-linked dystonia-parkinsonism (XDP), or Lubag syndrome, is known to cause progressive dystonia, with or without parkinsonism, among Filipino male adults with maternal roots from the Philippine island of Panay. We present cinematographic material of 11 cases of Lubag carrying the XDP haplotypes who manifest with a wide spectrum of movement disorders, including dystonia, tremor, parkinsonism, myoclonus, chorea, and myorhythmia. Because of overlapping features, Lubag patients are commonly misdiagnosed as idiopathic dystonia, essential tremor, Parkinson's disease, or Parkinson's-plus syndromes. Thus, it is imperative to elicit an exhaustive family history in any Filipino male adult who presents with a movement disorder. Copyright 2002 Movement Disorder Society

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Year:  2002        PMID: 12465067     DOI: 10.1002/mds.10271

Source DB:  PubMed          Journal:  Mov Disord        ISSN: 0885-3185            Impact factor:   10.338


  21 in total

Review 1.  Juvenile parkinsonism: epidemiology, diagnosis and treatment.

Authors:  Teri R Thomsen; Robert L Rodnitzky
Journal:  CNS Drugs       Date:  2010-06       Impact factor: 5.749

2.  X-linked Dystonia-Parkinsonism patient cells exhibit altered signaling via nuclear factor-kappa B.

Authors:  Christine A Vaine; David Shin; Christina Liu; William T Hendriks; Jyotsna Dhakal; Kyle Shin; Nutan Sharma; D Cristopher Bragg
Journal:  Neurobiol Dis       Date:  2016-12-22       Impact factor: 5.996

3.  Pre- and post- GPi DBS neuropsychological profiles in a case of X-linked dystonia-Parkinsonism.

Authors:  Nobuko Kemmotsu; Catherine C Price; Genko Oyama; Michael S Okun; Kelly D Foote; Laura L S Howe; Dawn Bowers
Journal:  Clin Neuropsychol       Date:  2011-01       Impact factor: 3.535

Review 4.  Differential diagnosis of chorea.

Authors:  Ruth H Walker
Journal:  Curr Neurol Neurosci Rep       Date:  2011-08       Impact factor: 5.081

Review 5.  Dystonia in Parkinson's disease.

Authors:  Eduardo Tolosa; Yaroslau Compta
Journal:  J Neurol       Date:  2006-12       Impact factor: 4.849

Review 6.  Rare causes of dystonia parkinsonism.

Authors:  Susanne A Schneider; Kailash P Bhatia
Journal:  Curr Neurol Neurosci Rep       Date:  2010-11       Impact factor: 5.081

Review 7.  The genetics of dystonias.

Authors:  Mark S LeDoux
Journal:  Adv Genet       Date:  2012       Impact factor: 1.944

Review 8.  Emerging common molecular pathways for primary dystonia.

Authors:  Mark S Ledoux; William T Dauer; Thomas T Warner
Journal:  Mov Disord       Date:  2013-06-15       Impact factor: 10.338

9.  Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.

Authors:  Hanyin Cheng; Simona Capponi; Emma Wakeling; Elaine Marchi; Quan Li; Mengge Zhao; Chunhua Weng; Piatek G Stefan; Helena Ahlfors; Robert Kleyner; Alan Rope; Aimé Lumaka; Prosper Lukusa; Koenraad Devriendt; Joris Vermeesch; Jennifer E Posey; Elizabeth E Palmer; Lucinda Murray; Eyby Leon; Jullianne Diaz; Lisa Worgan; Amalia Mallawaarachchi; Julie Vogt; Sonja A de Munnik; Lauren Dreyer; Gareth Baynam; Lisa Ewans; Zornitza Stark; Sebastian Lunke; Ana R Gonçalves; Gabriela Soares; Jorge Oliveira; Emily Fassi; Marcia Willing; Jeff L Waugh; Laurence Faivre; Jean-Baptiste Riviere; Sebastien Moutton; Shehla Mohammed; Katelyn Payne; Laurence Walsh; Amber Begtrup; Maria J Guillen Sacoto; Ganka Douglas; Nora Alexander; Michael F Buckley; Paul R Mark; Lesley C Adès; Sarah A Sandaradura; James R Lupski; Tony Roscioli; Pankaj B Agrawal; Antonie D Kline; Kai Wang; H T Marc Timmers; Gholson J Lyon
Journal:  Hum Mutat       Date:  2019-10-23       Impact factor: 4.878

10.  Phasic Knee Bending Dystonic and Parkinsonian Gait: A Characteristic Finding in X-Linked Dystonia Parkinsonism.

Authors:  Christopher D Stephen; Criscely L Go; Patrick Acuna; Nutan Sharma
Journal:  Mov Disord Clin Pract       Date:  2020-03-26
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